Canonical Allele Identifier: CA1948005920

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166965_2166966delinsAG , CM000673.2:g.2166965_2166966delinsAG	GRCh38
NC_000011.9:g.2188195_2188196delinsAG , CM000673.1:g.2188195_2188196delinsAG	GRCh37
NC_000011.8:g.2144771_2144772delinsAG	NCBI36
NG_008128.1:g.9840_9841delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.762_763delinsCT MANE Select	ENSP00000325951.4:p.Ala254=
ENST00000324155.8:c.*451_*452delinsCT	ENSP00000325831.3:n.*451_*452delinsCT
ENST00000333684.9:c.696-417_696-416delinsCT	ENSP00000328814.6:n.696-417_696-416delinsCT
ENST00000352909.7:c.762_763delinsCT	ENSP00000325951.3:p.Ala254=
ENST00000381168.7:c.*482_*483delinsCT	ENSP00000370560.3:n.*482_*483delinsCT
ENST00000381175.5:c.843_844delinsCT	ENSP00000370567.1:p.Ala281=
ENST00000381178.5:c.855_856delinsCT	ENSP00000370571.1:p.Ala285=
ENST00000412076.1:c.136-417_136-416delinsCT
ENST00000416223.5:c.136-198_136-197delinsCT
ENST00000469226.1:n.891_892delinsCT
ENST00000479437.5:n.311_312delinsCT
NM_000360.3:c.762_763delinsCT	NP_000351.2:p.Ala254=
NM_199292.2:c.855_856delinsCT	NP_954986.2:p.Ala285=
NM_199293.2:c.843_844delinsCT	NP_954987.2:p.Ala281=
XM_011520335.1:c.774_775delinsCT	XP_011518637.1:p.Ala258=
XM_011520335.2:c.774_775delinsCT	XP_011518637.1:p.Ala258=
NM_000360.4:c.762_763delinsCT MANE Select	NP_000351.2:p.Ala254=
NM_199292.3:c.855_856delinsCT	NP_954986.2:p.Ala285=
NM_199293.3:c.843_844delinsCT	NP_954987.2:p.Ala281=